Varaico: Literature-Extracted Genetic Variants

SIPA1L2

153 papers

RefSeq Summary

This gene encodes a member of the signal-induced proliferation-associated 1 like family. Members of this family contain a GTPase activating domain, a PDZ domain and a C-terminal coiled-coil domain wit...

Pfam Domains

Rap-GAP_dimeraa 483–558UCSCRap/Ran-GAP protein dimerization domain

Rap_GAPaa 624–806UCSCRap/ran-GAP

PDZaa 950–1022UCSCPDZ domain

SPAR_Caa 1420–1648UCSCC-terminal domain of SPAR protein

Gene Aliases

HGNC Name

signal induced proliferation associated 1 like 2

HGNC Alias Symbols

KIAA1389; SPAR2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_020808.5

p.Y808*

c.2424C>G

Surrounding Variants

1 paper

NM_020808.5

p.Y808*

c.2424C>A

1 paper

NM_020808.5

p.A813V

c.2438C>T

1 paper

NM_020808.5

p.T819T

c.2457C>T

1 paper

NM_020808.5

p.A790V

c.2369C>T

1 paper

NM_020808.5

p.A787S

c.2359G>T

1 paper

NM_020808.5

p.T832M

c.2495C>T

1 paper

NM_020808.5

p.A835V

c.2504C>T

1 paper

NM_020808.5

p.K838fs

c.2512_2513fs

1 paper

NM_020808.5

p.E839E

c.2517G>A

1 paper

NM_020808.5

p.G767D

c.2300G>A

1 paper

NM_020808.5

p.H858H

c.2574C>T

2 papers

NM_020808.5

p.G875R

c.2623G>C